Rett syndrome

Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting the central nervous system.

Microcephaly

Head circumference below 2 standard deviations below the mean for age and gender.


Total: 15

                       


(per page)
PMID (PMCID)
28815309
 FEMALE Child
Elimination of medically intractable epileptic drop attacks following endoscopic total corpus callosotomy in Rett syndrome.
Ueda K, Sood S, Asano E, Kumar A, Luat AF.
Childs Nerv Syst. 2017;33(11):1883-1887.
Rett syndrome is a neurodevelopmental genetic disorder, characterized by developmental delay, hand stereotypies, abnormal gait, and acquired microcephaly.
25266269
 OTHER Child
A case of Lennox-Gastaut syndrome in a patient with FOXG1-related disorder.
Terrone G, Bienvenu T, Germanaud D, Barthez-Carpentier MA, Diebold B, Delanoe C, Passemard S, Auvin S.
Epilepsia. 2014;55(11):e116-9.
Thus, we hypothesize that FOXG1 might be a new candidate gene in the etiology of LGS and suggest screening for this gene in cases of LGS with concomitant microcephaly and clinical features overlapping with Rett syndrome.
22739344
 MIXED_SAMPLE Child
14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements.
Allou L, Lambert L, Amsallem D, Bieth E, Edery P, Destree A, Rivier F, Amor D, Thompson E, Nicholl J, Harbord M, Nemos C, Saunier A, Moustaine A, Vigouroux A, Jonveaux P, Philippe C.
Eur J Hum Genet. 2012;20(12):1216-23.
We believe that the FOXG1 gene should be considered in severely mentally retarded patients (no speech-language) with severe acquired microcephaly (-4 to-6 SD) and few clinical features suggestive of Rett syndrome.
21934280
 FEMALE Child
De novo interstitial triplication of MECP2 in a girl with neurodevelopmental disorder and random X chromosome inactivation.
Mayo S, Monfort S, Rosello M, Orellana C, Oltra S, Armstrong J, Catala V, Martinez F.
Cytogenet Genome Res. 2011;135(2):93-101.
Loss-of-function mutations of the MECP2 gene are the cause of most cases of Rett syndrome in females, a progressive neurodevelopmental disorder characterized by severe mental retardation, global regression, hand stereotypies, and microcephaly.
19396824
 FEMALE
A CDKL5 mutated child with precocious puberty.
Saletti V, Canafoglia L, Cambiaso P, Russo S, Marchi M, Riva D.
Am J Med Genet A. 2009;149A(5):1046-51.
Most patients also show impaired social interaction with avoidance of eye-to-eye contact, and some clinical features reminiscent of Rett syndrome (RTT), including stereotypic hand movements, lack of purposeful hand use, acquired microcephaly, and generalized hypotonia.
17276711
 FEMALE Child
Coinheritance of mutated SMN1 and MECP2 genes in a child with phenotypic features of spinal muscular atrophy (SMA) type II and Rett syndrome.
Voutoufianakis S, Psoni S, Vorgia P, Tsekoura F, Kekou K, Traeger-Synodinos J, Kitsiou S, Kanavakis E, Fryssira H.
Eur J Paediatr Neurol. 2007;11(4):235-9.
Rett syndrome (RS) is an X-linked dominant neurodevelopmental disorder caused by mutations in MECP2 (Xq28) and characterized by normal development until 6-12 months of age, followed by regression with loss of acquired skills, gradual onset of microcephaly, stereotypic hand movements and psychomotor delay.
15689447
 FEMALE Infant
CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms.
Scala E, Ariani F, Mari F, Caselli R, Pescucci C, Longo I, Meloni I, Giachino D, Bruttini M, Hayek G, Zappella M, Renieri A.
J Med Genet. 2005;42(2):103-7.
We have observed two patients with signs of Rett syndrome showing acquired microcephaly and stereotypic midline hand movements.
15287421
 FEMALE Infant, Newborn
Fetal alcohol syndrome in association with Rett syndrome.
Zoll B, Huppke P, Wessel A, Bartels I, Laccone F.
Genet Couns. 2004;15(2):207-12.
Fetal alcohol syndrome in association with RETT syndrome: We report on a girl with neonatal dystrophy, microcephaly, heart defect, and the characteristic features of alcohol embryopathy.
11473472
 FEMALE Adult
Colonic lymphoid hyperplasia in melanosis coli.
Pearce CB, Martin H, Duncan HD, Goggin PM, Poller DN.
Arch Pathol Lab Med. 2001;125(8):1110-2.
We describe the case of a patient with Rett syndrome, a syndrome characterized by progressive infant encephalopathy, developmental delay, dementia, autism, ataxia, microcephaly, spastic paraparesis, and autonomic neuropathy with constipation.
10737989
 FEMALE
Novel de novo nonsense mutation of MECP2 in a patient with Rett syndrome.
Kim SJ, Cook EH Jr.
Hum Mutat. 2000;15(4):382-3.
The patient was not affected with microcephaly or hyperventilation, but had other features of Rett syndrome including severe mental retardation and symptoms of autistic disorder.
10641614
 FEMALE
Syndrome of microcephaly, mental retardation, and tracheoesophageal fistula associated with features of Rett syndrome.
Shetty AK, Chatters R, Tilton AH, Lacassie Y.
J Child Neurol. 2000;15(1):61-3.
Syndrome of microcephaly, mental retardation, and tracheoesophageal fistula associated with features of Rett syndrome.
10051171
 FEMALE Child
Monosomy 18q syndrome and atypical Rett syndrome in a girl with an interstitial deletion (18)(q21.1q22.3).
Gustavsson P, Kimber E, Wahlstrom J, Anneren G.
Am J Med Genet. 1999;82(4):348-51.
She did not have microcephaly, and the mental delay was obvious from an early age without a period of normal development, which makes the diagnosis of Rett syndrome atypical.
8676601
 FEMALE
[Carnitine deficiency and carnitine therapy in a patient with Rett syndrome].
Plochl E, Sperl W, Wermuth B, Colombo JP.
Klin Padiatr. 1996;208(3):129-34.
Later on recurrent washing movements of the hands, hyperventilation and microcephaly were observed and the diagnosis of Rett syndrome was established.
4061769
 FEMALE
Neuropathological studies in a child showing some features of the Rett syndrome.
Harding BN, Tudway AJ, Wilson J.
Brain Dev. 1985;7(3):342-4.
Clinical and neuropathological data are presented from a girl who died at 14 yrs and who in life displayed some of the characteristics of the Rett syndrome--social withdrawal, progressive loss of locomotor as well as social skills, microcephaly, and a very restricted stereotypy of manipulation.
4061761
 FEMALE
Rett syndrome: a case report from an audiovisual program.
Holm VA.
Brain Dev. 1985;7(3):297-9.
The patient shows the following symptoms not previously emphasized in the Rett syndrome: deceleration of head growth (rather than acquired microcephaly), fall-off in linear growth in infancy, early hypotonia, precocious puberty and respiratory alkalosis.